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    H2BC12L H2B clustered histone 12 like [ Homo sapiens (human) ]

    Gene ID: 54145, updated on 7-Jan-2024

    Summary

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    Official Symbol
    H2BC12Lprovided by HGNC
    Official Full Name
    H2B clustered histone 12 likeprovided by HGNC
    Primary source
    HGNC:HGNC:4762
    See related
    Ensembl:ENSG00000234289 AllianceGenome:HGNC:4762
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    H2B/s; H2BFS; H2BS1
    Summary
    Predicted to enable DNA binding activity. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide and defense response to other organism. Located in cytosol; extracellular space; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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    Genomic context

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    See H2BC12L in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (43565182..43565648)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (41920726..41921192)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (44985063..44985529)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723380 Neighboring gene heat shock transcription factor 2 binding protein Neighboring gene long intergenic non-protein coding RNA 313 Neighboring gene Sharpr-MPRA regulatory region 2841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44905292-44906122 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:44908716-44908853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44912277-44913132 Neighboring gene Sharpr-MPRA regulatory region 13752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44918667-44919571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44922889-44923698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44923814-44924426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44924427-44925037 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44928045-44928546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44931227-44931922 Neighboring gene ribosomal protein L31 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45003551-45004052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13361 Neighboring gene microRNA 6070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18545 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45094121-45094620 Neighboring gene ribosomal RNA processing 1B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13363

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Biochemical and antibacterial analysis of human wound and blister fluid. Frohm M, et al. Eur J Biochem, 1996 Apr 1. PMID 8620898
    2. Endotoxin-neutralizing antimicrobial proteins of the human placenta. Kim HS, et al. J Immunol, 2002 Mar 1. PMID 11859126
    3. Antimicrobial polypeptides of the human colonic epithelium. Howell SJ, et al. Peptides, 2003 Nov. PMID 15019208
    4. Quantitative proteomic analysis of post-translational modifications of human histones. Beck HC, et al. Mol Cell Proteomics, 2006 Jul. PMID 16627869
    5. Inhibition of core histones acetylation by carcinogenic nickel(II). Golebiowski F, et al. Mol Cell Biochem, 2005 Nov. PMID 16283522

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The H2BFS promoter is activated by serum depletion according to promoter reporter assays in HEK 293 cells.
      Title: Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural constituent of chromatin IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in antibacterial humoral response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in innate immune response in mucosa IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in substantia nigra development HEP PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of nucleosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    histone H2B type F-S
    Names
    H2B histone family member S
    H2B.S histone 1
    histone H2B.s
    histone protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_017445.3 → NP_059141.1  histone H2B type F-S

      Status: VALIDATED

      Source sequence(s)
      AP001051
      UniProtKB/Swiss-Prot
      A0AVF9, P57053, Q5R2W0
      UniProtKB/TrEMBL
      Q0D2M2
      Related
      ENSP00000481622.1, ENST00000599962.2
      Conserved Domains (1) summary
      smart00427
      Location:28 → 124
      H2B; Histone H2B

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      43565182..43565648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      41920726..41921192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_006504.3: Suppressed sequence

      Description
      NG_006504.3: This RefSeq was removed because it is now thought that this locus is a transcribed gene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P57053.2 GenPept UniProtKB/Swiss-Prot:P57053

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Miscellaneous